Fig. 1 Fiberoptic flexibible laryngoscopy with endoscopic evaluation of swallowing in a 2-month infant with laryngomalacia. Typical anatomic features including shortened aryepiglottic folds, bilateral supraarytenoid prolapse, posterior glottic edema, and…
6 Retinal Anomalies BEST’S DISEASE Barry N. Wasserman Etiology An autosomal dominant disorder also called vitelliform macular dystrophy, Best’s disease leads to retinal pigment epithelium (RPE) degeneration and secondary loss…
2 Congenital Corneal Opacity Bruce Schnall and Michael J. Bartiss The differential diagnosis for congenital corneal opacity can be remembered using the pneumonic STUMPED: Sclerocornea Tears in Descemet’s membrane or…
4 Iris Anomalies Michael J. Bartiss and Bruce M. Schall CENTRAL PUPILLARY CYSTS (PUPILLARY MARGIN EPITHELIAL CYSTS) Etiology Usually congenital in origin Can be acquired from cholinesterase inhibiting eye drops,…
9 Strabismus Disorders Scott E. Olitsky and Leonard B. Nelson PSEUDOESOTROPIA Epidemiology and Etiology Pseudoesotropia is one of the most common reasons an ophthalmologist is asked to evaluate an infant….
7 Eyelid Anomalies Kammi B. Gunton ANKYLOBLEPHARON Etiology Ectodermal dysplasia, otherwise unknown In ankyloblepharon–ectodermal dysplasia– clefting (AEC) patients, a defect in the TP63 gene, an epidermis intercellular junction regulator protein,…
5 Lens Anomalies CONGENITAL AND DEVELOPMENTAL CATARACTS Jonathan H. Salvin and Hillary Gordon Cataracts are an opacification of the lens of the eye, typically associated with age. Congenital cataracts may…
1 Abnormalities Affecting the Eye as a Whole Judith B. Lavrich ANOPHTHALMIA Anophthalmia, also known as anophthalmos, is a congenital anomaly that is characterized by the complete absence of ocular…
8 Lacrimal Anomalies Leonard B. Nelson and Harold P. Koller CONGENITAL MUCOCELE When an obstruction at the upper and lower portions of the lacrimal system occurs, fluid accumulates and causes…
